| Tag | Content |
|---|---|
| Uniprot ID | Q9ESZ8; O54700; O55030; O55031; Q8VHD1; Q8VHD2; Q8VHD3; Q8VHD4; Q9CSB5; Q9D9K9; |
| Entrez ID | 14886 |
| Genbank protein ID | BAB28803.2; AAK49785.1; AAK49787.1; AAC53569.1; BAB24743.1; AAK49786.1; AAC02990.1; AAC02991.1; AAF99338.1; AAH53044.1; AAK49788.1; |
| Genbank nucleotide ID | XM_017320681.1; NM_010365.4; XM_017320680.1; NM_001080748.2; NM_001080747.2; NM_001080746.2; |
| Ensembl protein ID | ENSMUSP00000134440; ENSMUSP00000133566; ENSMUSP00000080714; ENSMUSP00000106892; ENSMUSP00000049625; ENSMUSP00000133489; ENSMUSP00000133969; ENSMUSP00000133740; |
| Ensembl nucleotide ID | ENSMUSG00000060261 |
| Gene name | General transcription factor II-I |
| Gene symbol | Gtf2i |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 19109438 |
| Functional description | Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box (By similarity). Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation. |
| Sequence | MAQVVMSALP AEDEESSESR MVVTFLMSAL ESMCKELAKS KAEVACIAVY ETDVFVVGTE 60 RGRAFVNTRK DFQKDFVKYC VEEEEKAAEM HKMKSTTQAN RMSVDAVEIE TLRKTVEDYF 120 CFCYGKALGK STVVPVPYEK MLRDQSAVVV QGLPEGVAFK HPEHYDLATL KWILENKAGI 180 SFIIKRPFLE PKKHLGGRVL AAEAERSMLS PSGSCGPIKV KTEPTEDSGI SLEMAAVTVK 240 EESEDPDYYQ YNIQGPSETD GVDEKLPLSK ALQGSHHSSE GNEGTEVEVP AEDSTQHVPS 300 ETSEDPEVEV TIEDDDYSPP TKRLKSTEPP PPPPVPEPAN AGKRKVREFN FEKWNARITD 360 LRKQVEELFE RKYAQAIKAK GPVTIPYPLF QSHVEDLYVE GLPEGIPFRR PSTYGIPRLE 420 RILLAKERIR FVIKKHELLN STREDLQLDK PASGVKEEWY ARITKLRKMV DQLFCKKFAE 480 ALGSTEAKAV PYQKFEAHPN DLYVEGLPEN IPFRSPSWYG IPRLEKIIQV GNRIKFVIKR 540 PELLTHSTTE VTQPRTNTPV KEDWNVRITK LRKQVEEIFN LKFAQALGLT EAVKVPYPVF 600 ESNPEFLYVE GLPEGIPFRS PTWFGIPRLE RIVRGSNKIK FVVKKPELVV SYLPPGMASK 660 INTKALQSPK RPRSPGSNSK VPEIEVTVEG PNNSSPQTSA VRTPTQTNGS NVPFKPRGRE 720 FSFEAWNAKI TDLKQKVENL FNEKCGEALG LKQAVKVPFA LFESFPEDFY VEGLPEGVPF 780 RRPSTFGIPR LEKILRNKAK IKFIIKKPEM FETAIKESTS SKSPPRKINS SPNVNTTASG 840 VEDLNIIQVT IPDDDNERLS KVEKARQLRE QVNDLFSRKF GEAIGMGFPV KVPYRKITIN 900 PGCVVVDGMP PGVSFKAPSY LEISSMRRIL DSAEFIKFTV IRPFPGLVIN NQLVDQNESE 960 GPVIQESAEA SQLEVPVTEE IKETDGSSQI KQEPDPTW 998 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | GTF2I | 534669 | A7MB80 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | GTF2I | 479714 | F6Y258 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | GTF2I | 102190656 | A0A452DXC3 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | GTF2I | 2969 | P78347 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Gtf2i | 14886 | Q9ESZ8 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | GTF2I | 100513345 | F1RJL2 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | Gtf2i | 353256 | A0A0G2K4T7 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0003677 | DNA binding | IEA |
| GO:0003700 | DNA-binding transcription factor activity | IEA |
| GO:0005515 | protein binding | IPI |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0006355 | regulation of transcription, DNA-templated | IEA |
| GO:0006366 | transcription by RNA polymerase II | IEA |
| GO:0016525 | negative regulation of angiogenesis | ISO |
| GO:0051481 | negative regulation of cytosolic calcium ion concentration | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005623 | cell | IEA |
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IDA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005737 | cytoplasm | IEA |
| Reactome ID | Reactome Term | Evidence |
|---|
| Keyword ID | Keyword Term |
|---|---|
| KW-0002 | 3D-structure |
| KW-0007 | Acetylation |
| KW-0025 | Alternative splicing |
| KW-0963 | Cytoplasm |
| KW-0238 | DNA-binding |
| KW-1017 | Isopeptide bond |
| KW-0539 | Nucleus |
| KW-0597 | Phosphoprotein |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0804 | Transcription |
| KW-0805 | Transcription regulation |
| KW-0832 | Ubl conjugation |
| PROSITE ID | PROSITE Term |
|---|---|
| PS51139 | GTF2I |
| Pfam ID | Pfam Term |
|---|---|
| PF02946 | GTF2I |